Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
about
The Increasing Importance of Gene-Based AnalysesPersonalized Therapy for Generalized Lymphatic Anomaly/Gorham-Stout Disease With a Combination of Sunitinib and TaxolLoss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear DefectsThe revolution in human monogenic disease mapping.Overexpression of Mafb in podocytes protects against diabetic nephropathy.Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.Total Hip Arthroplasty in a Patient with Multicentric Carpotarsal Osteolysis: a Case Report.Genetics of cleft lip and cleft palate.Of contigs and quagmires: next-generation sequencing pitfalls associated with transcriptomic studies.Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.Osteopetrosis: genetics, treatment and new insights into osteoclast function.Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.A brilliant breakthrough in OI type V.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Integration of Cistromic and Transcriptomic Analyses Identifies Nphs2, Mafb, and Magi2 as Wilms' Tumor 1 Target Genes in Podocyte Differentiation and Maintenance.Ectopic expression of the transcription factor MafB in basal keratinocytes induces hyperproliferation and perturbs epidermal homeostasis.MAFB Determines Human Macrophage Anti-Inflammatory Polarization: Relevance for the Pathogenic Mechanisms Operating in Multicentric Carpotarsal Osteolysis.Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans.Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by Mutation in AsianThree cases of multicentric carpotarsal osteolysis syndrome: a case seriesWhole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas
P2860
Q26750946-0D125D8B-9E1A-4E9E-9803-F9A5D19618C2Q26784219-B378E7DC-EFDB-4F75-AD9F-A83B40178EC8Q28116953-F66491E4-3D9F-40AD-AD21-34CE91350263Q34347716-D1CA25B0-3481-49B1-A35D-F50E79BAB048Q34427651-B50A44A8-AA30-44D4-9EE1-B09E69082DE6Q36061595-787DDECF-BDB7-42A0-9749-DBCD19D82C59Q37026655-3EF12B14-3BA8-4999-878E-887ABBA99037Q37587513-10EB0C4F-07EB-46F7-A4FC-F80AABB68974Q38101440-2B66042E-1A53-4835-8729-7D183F5A1945Q38114930-9D62E6FB-79E8-4F70-84A1-DAE8D711F1BCQ38123371-222CFDFB-8A64-4D97-8248-98438A7F7CCCQ38125619-0DC4139C-D4CE-4D20-9D4E-030ED321679DQ38136971-04638CB4-3022-424C-8347-123808BEBE98Q38175288-31D80711-07A5-41A2-BDC7-B48D89C35AACQ41629547-DA6D4E3B-8844-4EBB-86BD-4E070A9F74ACQ42508629-FAB0ADCA-11C2-4152-A5DE-AED2393556BCQ48008754-3631BFF6-2B22-49FB-9C90-030AD836E499Q51010632-2BCFEA0F-CD9F-46CD-A5A9-750471A0E974Q52576081-28B11CDC-B5E7-489E-A18A-2B111D166324Q54893160-63568E44-ECA2-4D4B-98EF-CFC6C6885BAAQ57300270-5677D166-3509-4BB5-BE1A-3A9041E5DCA3Q57652745-3525071A-2507-456D-A541-D11C2265D4A6Q57667365-7AEBAB49-B7E5-4E9F-A6CE-9F332317164C
P2860
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Multicentric carpotarsal osteo ...... nal activation domain of MAFB.
@ast
Multicentric carpotarsal osteo ...... nal activation domain of MAFB.
@en
type
label
Multicentric carpotarsal osteo ...... nal activation domain of MAFB.
@ast
Multicentric carpotarsal osteo ...... nal activation domain of MAFB.
@en
prefLabel
Multicentric carpotarsal osteo ...... nal activation domain of MAFB.
@ast
Multicentric carpotarsal osteo ...... nal activation domain of MAFB.
@en
P2093
P2860
P50
P1476
Multicentric carpotarsal osteo ...... nal activation domain of MAFB.
@en
P2093
Andreas Zankl
Anna L Mitchell
Bruno P Leheup
Evgeny A Glazov
Graeme R Clark
Jim McGill
Marie Schroeder
Marie-Claude Addor
Paul J Leo
Paulien Terhal
P2860
P304
P356
10.1016/J.AJHG.2012.01.003
P407
P577
2012-03-01T00:00:00Z